Canonical Allele Identifier: CA2743687287

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059750_55059751del , CM000663.2:g.55059750_55059751del	GRCh38
NC_000001.10:g.55525423_55525424del , CM000663.1:g.55525423_55525424del	GRCh37
NC_000001.9:g.55298011_55298012del	NCBI36
NG_009061.1:g.25204_25205del , LRG_275:g.25204_25205del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1681+87_1681+88del	ENSP00000501161.2:n.1681+87_1681+88del
ENST00000710286.1:c.2038+87_2038+88del	ENSP00000518176.1:n.2038+87_2038+88del
ENST00000673903.1:c.1306+87_1306+88del	ENSP00000501257.1:n.1306+87_1306+88del
ENST00000673913.1:c.421+87_421+88del	ENSP00000501161.1:n.421+87_421+88del
ENST00000302118.5:c.1681+87_1681+88del MANE Select	ENSP00000303208.5:n.1681+87_1681+88del
ENST00000490692.1:n.2227+1103_2227+1104del
NM_174936.3:c.1681+87_1681+88del , LRG_275t1:c.1681+87_1681+88del	NP_777596.2:n.1681+87_1681+88del
NR_110451.1:n.1288+87_1288+88del
XM_011541193.1:c.802+87_802+88del	XP_011539495.1:n.802+87_802+88del
NM_174936.4:c.1681+87_1681+88del MANE Select	NP_777596.2:n.1681+87_1681+88del
NR_110451.2:n.1288+87_1288+88del